A Novel N‐Terminal PRPF6 Variant in Autosomal Dominant Retinitis Pigmentosa

Puntos clave

• This report aims to identify the role of a novel N-terminal PRPF6 variant in autosomal dominant Retinitis Pigmentosa.
• Identification of the N-terminal PRPF6 variant (c.514C>T)
• Assessment of visual acuity and peripheral vision
• Comparison with C-terminal variants to evaluate differences
• The N-terminal variant is associated with progressive peripheral vision loss
• Central visual acuity remains notably preserved
• Phenotypic expression differs from that of C-terminal variants